کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6087283 1207354 2015 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Brief CommunicationSuccessful newborn screening for SCID in the Navajo Nation
موضوعات مرتبط
علوم زیستی و بیوفناوری ایمنی شناسی و میکروب شناسی ایمونولوژی
پیش نمایش صفحه اول مقاله
Brief CommunicationSuccessful newborn screening for SCID in the Navajo Nation
چکیده انگلیسی


- A research study found SCID newborn screening feasible for Navajo Native Americans.
- When face-to-face consent was required, only two thirds of infants were screened.
- Artemis-deficient SCID due to a founder mutation was identified by screening, permitting early treatment.
- Population-based screening confirmed SCID in 1 per 2000 Navajo births.

Newborn screening (NBS) for severe combined immunodeficiency (SCID) identifies affected infants before the onset of life-threatening infections, permitting optimal treatment. Navajo Native Americans have a founder mutation in the DNA repair enzyme Artemis, resulting in frequent Artemis SCID (SCID-A). A pilot study at 2 Navajo hospitals assessed the feasibility of SCID NBS in this population. Dried blood spots from 1800 infants were assayed by PCR for T-cell receptor excision circles (TRECs), a biomarker for naïve T cells. Starting in February 2012, TREC testing transitioned to standard care throughout the Navajo Area Indian Health Service, and a total of 7900 infants were screened through July 2014. One infant had low TRECs and was diagnosed with non-SCID T lymphopenia, while 4 had undetectable TRECs due to SCID-A, all of whom were referred for hematopoietic cell transplantation. This report establishes the incidence of SCID-A and demonstrates effectiveness of TREC NBS in the Navajo.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Immunology - Volume 158, Issue 1, May 2015, Pages 29-34
نویسندگان
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